Autosomal recessive syndrome. Medical search. Frequent questions

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Anatomy2

Toes Chromosomes, Human, Pair 2

Diseases36

Syndrome Abnormalities, Multiple Macrocephaly Microcephaly Hand Deformities, Congenital Intellectual Disability Facies Polycystic Kidney, Autosomal Recessive Retinitis Pigmentosa Down Syndrome Metabolic Syndrome X Ichthyosis Hypotrichosis Nephrotic Syndrome Ichthyosiform Erythroderma, Congenital Dwarfism Deafness Hearing Loss, Sensorineural Sjogren's Syndrome Ichthyosis, Lamellar Osteochondrodysplasias Cerebellar Ataxia Bone Diseases, Developmental Muscular Dystrophies Chromosome Disorders Werner Syndrome Nails, Malformed Ectodermal Dysplasia Eye Abnormalities Turner Syndrome Bloom Syndrome Eye Diseases, Hereditary Metabolism, Inborn Errors Osteopetrosis Craniofacial Abnormalities Bardet-Biedl Syndrome

Chemicals and Drugs2

Codon, Nonsense Genetic Markers

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Pedigree Facies Chromosome Mapping Heterozygote Detection Genetic Testing

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes27

Genes, Recessive Consanguinity Mutation Homozygote DNA Replication Timing Phenotype Genetic Linkage Mutation, Missense Lod Score Heterozygote Codon, Nonsense Exons Base Sequence Frameshift Mutation Genes, Dominant Haplotypes Alleles Genotype Genetic Heterogeneity Amino Acid Sequence Founder Effect Genetic Markers Exome Microsatellite Repeats Chromosomes, Human, Pair 2 Point Mutation Polymorphism, Single-Stranded Conformational

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups1

Infant, Newborn

Health Care2

Family Health Genetic Testing

Geographicals1

Anatomy Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Named Groups Health Care Geographicals

Genes, Recessive Consanguinity Syndrome Abnormalities, Multiple Macrocephaly Microcephaly Hand Deformities, Congenital Intellectual Disability Pedigree Facies Toes Mutation Polycystic Kidney, Autosomal Recessive Homozygote DNA Replication Timing Phenotype Genetic Linkage Retinitis Pigmentosa Mutation, Missense Chromosome Mapping Down Syndrome Metabolic Syndrome X Lod Score Heterozygote Ichthyosis Molecular Sequence Data Hypotrichosis Codon, Nonsense Exons Nephrotic Syndrome Ichthyosiform Erythroderma, Congenital Base Sequence Frameshift Mutation Genes, Dominant Haplotypes Dwarfism Alleles Genotype Deafness Pakistan Hearing Loss, Sensorineural Sjogren's Syndrome Ichthyosis, Lamellar Osteochondrodysplasias Cerebellar Ataxia Genetic Heterogeneity Heterozygote Detection Amino Acid Sequence Founder Effect Family Health Genetic Markers Bone Diseases, Developmental Muscular Dystrophies Infant, Newborn Genetic Testing Exome Microsatellite Repeats Chromosome Disorders Werner Syndrome Nails, Malformed Ectodermal Dysplasia Eye Abnormalities Turner Syndrome Bloom Syndrome Chromosomes, Human, Pair 2 Eye Diseases, Hereditary Metabolism, Inborn Errors Point Mutation Osteopetrosis Polymorphism, Single-Stranded Conformational Craniofacial Abnormalities Bardet-Biedl Syndrome

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